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Before the availability of the various tests and screenings that enabled potential parents know the sex of their baby and what possible health issues it had, being pregnant was akin to a sock on boxing day or an even better analogy, receiving a parcel from a long lost friend; you know there was a gift in there for you but you have no idea if it would be something you would like, but the idea that someone sent you something is a comforting thought. However today with the amount of technology available at our disposal, we can metaphorically speaking look inside the parcel and see what we have received. This is the dilemma, once in a while we receive something well away from what we were expecting so much so that it completely changes the way we view the parcel and at times ourselves. The above scenario begins to capture the kaleidoscope of emotions that surround getting results of a scan from the perspective of an expectant mother.

And this is the case of the mother whose case this paper is based upon, who has received the results of a scheduled scan, and the there is a suggestion by the technicians that there is a possibility of an aneuploid fetus, in the light of this a decision has to be made by the medical practitioners and the mother on the next steps which have to be take which will include amniocentesis and a further test/screening to be carried out both on the mother and fetus for Huntington’s disease. This is of course important to know because of the significance of such a suspicion and its implications for the not just the mother and the fetus but for their immediate society, given how common such a condition is among humans. And all the implications for the mother and the fetus itself.  This rather distressing condition, is made somewhat worse by the fact that the already flustered mother has to make a very quick decision about undergoing a traumatic amniocentesis procedure and she does not have the luxury of time to sit down and take it all in, because of the time window within which this test has to be carried out, a case will be made for the kind of social support available to the pregnant woman, including financial help which might or might not be available to her at this time. Huntington’s disease is another condition which this mother will need to have a test done on, the nature of this disease and the consequences of development of this condition makes it imperative that there should be some form of support made available to people who could have this condition.

This paper will examine all of these conditions and the roles that nurses who spend some amount of time with the expectant mother have to play in assisting the mother come to a decision, further more it will raise the issue of the need for the nurses themselves to have additional genetics training. This is of increasing importance because of the availability of the technology that enables such information to be readily available to the potential parents. A new role for nurses who have to care for people with genetic conditions is rapidly developing. It therefore is only a natural progression for nurses irrespective of their area of practice to become involved in the provision of information about genetics testing as well provision of care and assistance to families with regards to decision making and adjustment to new genetic information given that, the application of genetic information and testing is moving genetics into the mainstream of health care this can be achieved through providing the nurses with genetics training (Jenkins & Calzone 2007)


Of all the chromosomal abnormalities that affect humans, aneuploidy is the most common; it is the leading genetic cause of congenital birth defect as well as miscarriages. This condition represents an abnormal number of chromosomes which could be less (monosomy) or more (trisomy). The first human aneuploid condition was diagnosed about 50 years ago. It is estimated that about 5% of all clinically recognized pregnancies are trisomic or monosomic, in general many of these kinds of fetuses terminate in-utero this provides an explanation for the high number of miscarriages associated with this condition a few number of these anomalies are compatible with life (example is the trisomy of the 21st chromosome) this makes aneuploidy the leading cause of birth defects and mental retardation.

Aneuploidy results from a faulty recombination process as it occurs, monosomy’s almost always do not go to term, but trisomy’s can survive but are born with physical handicaps and or mental retardation. This problem specifically results from faulty disjunctional mechanisms which could influence the recombination process in three general ways; there are those disjunctions that affect all chromosomes, those that affect groups of chromosomes and those that affect individual chromosomes. Some factors have influence on the occurrence of aneuploidies or could be predisposing factors for the condition. These factors include; maternal age, family history of aneuploidy as well as aberrant recombination of genes however there is the suggestion that environmental factors could have some influence on the incidence of aneuploidy (Hassold, Hall & Hunt, 2007)

Huntington’s disease

Huntington’s is a disease is an autosomal dominant neurodegenerative disorder, which occurs due to the abnormal expansion or IT-15 gene on chromosome 4 which encodes for the protein huntingtin this defect causes a a part of the DNA sequence that is known as CAG repeat to occur severally, under normal conditions, this part repeats 10-28 times but in people with this defect, this repetition occurs 36-120 times. The autosomal dominant nature of inherence of this condition means that each child of an affected parent has a 50% chance of developing the condition. This disease consists for a triad of cognitive, psychiatric and motor symptoms. The motor dysfunctions include ataxias, chorea movements, ataxic gait, frequent stumbling and falls, diminished manual dexterity and problems with deglutition. Additionally, there could be Parkinsonism and dystonia. Cognitive symptoms include loss of speed of thought psychiatric symptoms include; depression, mania, anxiety, impulsivity obsessive compulsive disorder apathy and social withdrawal (Warby, Graham & Hayden, 2010) given these specific symptoms, and they way they could affect the decision making process of the mother in question care and a lot of patience must be taken when counseling such a patient. Patience, because of the irritability and the possible aggressiveness or apathy of the woman, the care providers must understand that the aggression or apathy exhibited by the patient,  is not a reflection on them but simply a symptom of an existing disease, additionally decision making might be difficult given the impaired cognitive function associated with Huntington’s.

Aneuploid Screening

Above the age of 35 a woman’s risk for having a child increases significantly, this is in itself an important criterion used in evaluating the risk of developing an aneuploid fetus. The detection of this group of diseases however falls into the sphere of prenatal medicine, the goal of this and other similar tests are to provide the mother with information, that will enable her make the right call with regards to following through with the pregnancy in spite of the sometimes serious disabilities the child will develop and live with, or the termination of the pregnancy.  Studies on aneuploidy in fetuses show that one of the indicators for detection of aneuploidy using ultrasound scan, is nuchal translucency which is an expression for describing the presence of increased fluid at the back of the neck this particular finding has been associated with a number of chromosomal conditions like trisomy 21(in combination with maternal age, nuchal translucency has led to a 72-75% rise in detection rate) other biochemical markers can be used the pregnancy associated plasma protein A  (PAPP-A) marker and the hCG (human chorionic gonadotropin) in combination with maternal age and nuchal translucency increase the sensitivity of first trimester (first twelve weeks of pregnancy) screening (Driscoll & Gross , 2009). The optimum age for the detection of nuchal tenderness is between the 11th and 13 weeks (Nicolaides, 2011)

In the second trimester of pregnancy, detection of elevated levels of some specific markers like alpha –fetoprotein, unconjugated estriol, Inhibin-A and hCG are all indicators of fetal aneuploidy, in addition to maternal age all of these markers are used in the detection of aneuploidy. Using these markers is known as quadruple screening and there is a detection rate of 80% for trisomy 21 mutation, with a positive screening rate of 5%. This quadruple screening test is carried out within the 15th and 22nd weeks of gestation. Individuals with elevated levels of these markers (which indicate a risk of an aneuploid fetus) are referred for genetic counseling and offered diagnostic testing. ( Driscoll & Gross , 2009)

It is important to note here that the using age criterion (above 35 years of age and above) as well as ultra sound (which detects nuchal translucency) constitute the non-invasive testing methods. The other tests irrespective of their sensitivities, still poses a 5% false positive rate. In comparing the clinical performance with regards to the detection rates for first and second trimester screening/testing, one must take into consideration the rates of spontaneous abortions in pregnancies involving a gene 21 trisomy at different gestational ages. Further more questions have been raised on the value of second trimester testing after failed first trimester testing given the accuracy of first trimester testing  which includes all the parameters (Wapner et al 2003).

On the basis of the above the time frame for the screening has to be within the 1st to 12th weeks for first semester training and the 12th -24th weeks. Given the nature of the possible outcomes and their implications it is vital that nurses who know the full genetic implications of these potential situations and understand the time window be available to press upon the mothers the import of having these tests, in a matter that primarily informs them properly, while realizing at the same time that they (the mothers) have a right to refuse to have any of these tests (Audibert, 2011). However it is imperative that they understand that early screening and detection of these genetic anomalies, affords the woman the opportunity for early and safe termination. Other options for the testing with include the OSCAR (one-stop clinical assessment of risk) which has a 90% detection rate with a 5% false positive rate. However the 12th week is a threshold for the detection of fetal abnormalities, the combined biochemical and the ultrasound tests should be done in two separate visits as this can improve the detection rates by as much as 90% (Nicolaides, 2011) other invasive options available include chorionic villus sampling and amniocentesis, they all involve the taking of material from the mother under ultrasound guidance.

Crisis Response and the Role of the Nurse

Given the massive amount of information provided above the patient who already has early onset Huntington’s has a significant decision to make, this decision includes the need to understand the risk that her unborn child already has a 50%chance of developing, the likelihood of a giving birth to a child with severe developmental problems, and the risk(arguably increased by her chorea symptoms) for performing the amniocentesis procedure all this boils down to a crisis for this woman.

The role of the nurse in this case is to apply the information that she has on genetics as well has her position as a health care provider to properly counsel this woman, on what her options are and the need for quick decisions to be made all without further alarming the patient. The provision of information is vital to the decision making process in this particular case here the nurse must bring into play all of her clinical experience especially in cases like this where there is a limited time window for decision making. This is important because in this particular case there are multiple goals; the health of the mother, balanced against the potential risks associated with the procedure, the life of the infant with the immediate concern for aneuploidy as well as the long term concerns for Huntington’s. All of these will need the nurse to assess the situation and properly guide the patient to arrive at the best outcome (Thompson et al, 2004)

The counseling provided by the nurse  needs to consider the barriers that each individual has, clinical experience can bring with it some measure of cynicism so it is important that the nurse in this instance or in any instance remember to empathize with the patient in such a way as to figure out the patients strengths and weakness and build up the parts that require building up so as to enable the patient make the best decision that they can make. This important because the decision making process is essentially one that manages the patients fear and expectations, a properly grounded clinical experience plus knowledge will stand the nurse in a better stead to provide much needed assistance to this and other patients.

The Need for Genetic Training for Nurses

In view of the vital contact between nurses and patients, it is becoming increasingly vital that genetic perspective be included into the nurse’s scope of practice which will reflect the increasing role of genetics in the 21st century medical practice. Traditionally the subject of genetics was often associated with procreation, but with the advances being made in the field of genetics there is a greater emphasis on genetics related patient care for instance with regards to oncology, nurses are increasingly involved in genetics-related activities with include collecting extensive patient history, construction of pedigrees and assessing individual risk of cancer of their patients. This increasingly important role being played by genetics, is creating a demand for health professionals who understand the role played by genes in disease risk, the impact which it has on disease management as well as the education needs of patients and their families (Greco & Mahon n.d)

The top ten leading causes of mortality in the US all have a genetic/genomic component conditions like diabetes, cardiac disease, cerebrovascular disease and cancer represent the main killers most if not all of these diseases predominantly run a chronic course this means that nurses will play major roles in the management of these conditions. Yet, in spite of the increasing evidence of the role of genetics in the proliferation of these conditions there isn’t much by way of evidence from studies on the effects of genetically competent nursing on public health. Yet it remains clear that nurses who are knowledgeable on genetics and who can take proper patient history, can asses risk and provide counseling that can help postpone the initiation of some genetically predisposed conditions. Due to their knowledge they are able to detect patients who have genetically predisposed conditions in their family history and recommend specific tests for them which could prove to be life saving.  Specifically as concerns conception and the prenatal period nurses who have received training on genetics are better equipped to prepare and counsel a family who have a child with a genetic condition (Calzone et al, 2010)

Given the above it is vital that the training of nurses which already involves disease management be expanded to include latest discoveries in the field of genetics as well and evidence based  knowledge on best practices that reflect current developments in genetics science and medicine.


  1. Audibert, F., Gagnon, A., Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada, & Prenatal Diagnosis Committee of the Canadian College of Medical Geneticists. (January 01, 2011). Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies. Journal of Obstetrics and Gynaecology Canada , 33, 7, 754-67
  2. Calzone, K. A., Cashion, A., Feetham, S., Jenkins, J., Prows, C. A., Williams, J. K., & Wung, S. F. (January 01, 2010). Nurses Transforming Health Care Using Genetics and Genomics. Nursing Outlook, 58, 1, 26-35.
  3. Driscoll, D. A., & Gross, S. (June 11, 2009). Prenatal Screening for Aneuploidy. New England Journal of Medicine, 360, 24, 2556-2562.
  4. Greco, K., Mahon, S.,  (n.d )Genetics Nursing Practice Enters a New Era With Credentialing. The Internet Journal of Advanced Nursing Practice. 2002 Volume 5 Number 2
  5. Hassold, T., Hall, H., & Hunt, P. (January 01, 2007). The Origin of Human Aneuploidy:
  6. Where We have Been, Where We are Going. Human Molecular Genetics, 16, 2, 203-8.
  7. Jenkins, J., & Calzone, K. A. (March 01, 2007). Establishing the Essential Nursing
  8. Competencies for Genetics and Genomics. Journal of Nursing Scholarship, 39, 1, 10-16
  9.  Nicolaides, K. H. (January 01, 2011). Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis, 31, 1, 7-15.
  10. Wapner, R., Thom, E., Simpson, J. L., Pergament, E., Silver, R., Filkins, K., Platt, L., ... First Frimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. (January 01, 2003). First-trimester screening for trisomies 21 and 18. The New England Journal of Medicine, 349, 15, 1405-13.
  11. Warby S.C, Graham, R.K, & Hayden, M.R. Huntington’s  Disease. 1998 Oct 23 [Updated 2010 Apr 22]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Retreived  from:

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